Details of Disease | DrugMAP

General Information of Disease (ID: DISYIZ2S)

Disease Name	Developmental and epileptic encephalopathy, 58
Synonyms	developmental and epileptic encephalopathy 58; DEE58; EIEE58; epileptic encephalopathy, early infantile, 58; infantile epileptic encephalopathy 58
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISYIZ2S: Developmental and epileptic encephalopathy, 58
Disease Identifiers	MONDO ID MONDO_0033367 UMLS CUI C4693367 OMIM ID 617830 MedGen ID 1646861

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NTRK2	TTKN7QR	Strong	Autosomal dominant	[1]
NTRK2	TTKN7QR	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NTRK2	OTD557PU	Strong	Autosomal dominant	[1]
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References

1	High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.
2	Diagnostic value of exome and whole genome sequencing in craniosynostosis.J Med Genet. 2017 Apr;54(4):260-268. doi: 10.1136/jmedgenet-2016-104215. Epub 2016 Nov 24.